What one change to a gene actually does

Below is a short stretch of messenger RNA — the recipe a cell reads to build a protein. Switch on a variant and watch the recipe, the protein, and the outcome change.

Nucleotide
A single letter of the genetic code — A, U, G, or C in RNA.
Codon
A group of three nucleotides. Each codon names one amino acid, the building block of a protein.
Amino acid
A protein building block. A chain of them, folded up, is a working protein.